A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000967



Internal ID68208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74308455..74308542hg38UCSC Ensembl
chr7:73722785..73722872hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483612
Supporting Variants
Samples
Known GenesCLIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000967
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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